A48V (p.Ala48Val) variant of HOGA1 (Q86XE5)
A48V (p.Ala48Val) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- gnomAD 10-97584846-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.78
- MetaSVM 0.72
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available